Variant report

Variant	esv3485768
Chromosome Location	chr2:52748350-52786654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASB3-9	chr2:52778477-52778840	l_1835_chr2:52771950-52778840_testes
2	lnc-ASB3-9	chr2:52771951-52772275	l_1835_chr2:52771950-52778840_testes

Extended variants
information (count: 799 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:799 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549154606	chr2:52748352-52748353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113211023	chr2:52748393-52748394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7557580	chr2:52748425-52748426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557627315	chr2:52748432-52748433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77908048	chr2:52748436-52748437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112755084	chr2:52748496-52748497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115576315	chr2:52748516-52748517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111703155	chr2:52748518-52748519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374790207	chr2:52748531-52748532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546114948	chr2:52748536-52748537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113996774	chr2:52748612-52748613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370708904	chr2:52748651-52748652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563001610	chr2:52748653-52748654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7570162	chr2:52748688-52748689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7596696	chr2:52748692-52748693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7557874	chr2:52748701-52748702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs373674102	chr2:52748732-52748733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7570257	chr2:52748769-52748770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs547716057	chr2:52748773-52748774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567586660	chr2:52748786-52748787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528882257	chr2:52748808-52748809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141770431	chr2:52748816-52748817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568943539	chr2:52748831-52748832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537585085	chr2:52748844-52748845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557831742	chr2:52748845-52748846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543293467	chr2:52748846-52748847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs67805903	chr2:52748847-52748848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111345634	chr2:52748852-52748853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573171444	chr2:52748856-52748857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201001513	chr2:52748858-52748859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs59711478	chr2:52748859-52748860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs188889965	chr2:52748860-52748861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59994780	chr2:52748863-52748864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150805972	chr2:52748864-52748865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57915802	chr2:52748865-52748866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35252991	chr2:52748871-52748872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3048788	chr2:52748872-52748873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542185461	chr2:52748916-52748917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571381839	chr2:52748927-52748928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147081693	chr2:52748939-52748940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554129765	chr2:52748975-52748976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561851737	chr2:52748978-52748979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543052145	chr2:52748995-52748996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73931367	chr2:52749005-52749006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561266466	chr2:52749036-52749037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9309230	chr2:52749068-52749069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs77878402	chr2:52749075-52749076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73931368	chr2:52749098-52749099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565362667	chr2:52749132-52749133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559358267	chr2:52749168-52749169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52746600-52748400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr2:52746800-52748400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:52747200-52748400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:52747600-52748400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:52748200-52749200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:52748400-52749400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:52749200-52749400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:52749400-52749600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:52754000-52754600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:52754600-52758600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:52758600-52760000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:52759400-52760600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:52760000-52760400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:52760400-52761400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:52761400-52764200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:52764200-52764800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:52764400-52764600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:52764800-52765800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:52764800-52766200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:52765800-52766400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:52766000-52766400	Enhancers	Fetal Muscle Trunk	muscle
22	chr2:52766000-52766400	Enhancers	Fetal Muscle Leg	muscle
23	chr2:52766200-52767200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:52766400-52767600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:52766400-52767800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:52766600-52767200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:52766800-52767400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:52766800-52767400	Enhancers	NH-A	brain
29	chr2:52767600-52768000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:52773000-52773400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:52784600-52785000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:52784600-52786200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:52784800-52786200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:52784800-52786400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:52785000-52785200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:52785000-52785400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr2:52785000-52786200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:52785200-52785400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:52785200-52785600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr2:52785200-52785800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:52785200-52785800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr2:52785200-52786000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:52785200-52786000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr2:52785400-52785600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:52785400-52785600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:52785400-52785800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr2:52785400-52785800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:52785400-52785800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:52785600-52785800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr2:52785600-52786000	Enhancers	HUES6 Cell Line	embryonic stem cell

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